Linked Data
ClinVar Variation Id:
242432
ClinVar RCV Id:
RCV000228738
dbSNP Id:
rs878854372
gnomAD v4:
2-178527120-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178527121del , CM000664.2:g.178527121del | GRCh38 |
| NC_000002.11:g.179391848del , CM000664.1:g.179391848del | GRCh37 |
| NC_000002.10:g.179100094del | NCBI36 |
| NG_011618.3:g.308682del , LRG_391:g.308682del | |
| NG_051363.1:g.9295del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342992.11:c.100163del (TTN) | ENSP00000343764.6:p.Leu33388ArgfsTer16 | |
| ENST00000342175.11:c.81248del (TTN) | ENSP00000340554.6:p.Leu27083ArgfsTer16 | |
| ENST00000359218.10:c.81047del (TTN) | ENSP00000352154.5:p.Leu27016ArgfsTer16 | |
| ENST00000342175.10:c.81248del (TTN) | ENSP00000340554.6:p.Leu27083ArgfsTer16 | |
| ENST00000342992.10:c.100163del (TTN) | ENSP00000343764.6:p.Leu33388ArgfsTer16 | |
| ENST00000359218.9:c.81047del (TTN) | ENSP00000352154.5:p.Leu27016ArgfsTer16 | |
| ENST00000460472.6:c.80672del (TTN) | ENSP00000434586.1:p.Leu26891ArgfsTer16 | |
| ENST00000589042.5:c.107867del (TTN) MANE Select | ENSP00000467141.1:p.Leu35956ArgfsTer16 | |
| ENST00000591111.5:c.102944del (TTN) | ENSP00000465570.1:p.Leu34315ArgfsTer16 | |
| ENST00000615779.4:c.102944del (TTN) | ENSP00000483597.1:p.Leu34315ArgfsTer16 | |
| NM_001256850.1:c.102944del (TTN) | NP_001243779.1:p.Leu34315ArgfsTer16 | |
| NM_001267550.2:c.107867del (TTN) MANE Select | NP_001254479.2:p.Leu35956ArgfsTer16 | |
| NM_003319.4:c.80672del (TTN) | NP_003310.4:p.Leu26891ArgfsTer16 | |
| NM_133378.4:c.100163del (TTN) | NP_596869.4:p.Leu33388ArgfsTer16 | |
| NM_133432.3:c.81047del (TTN) | NP_597676.3:p.Leu27016ArgfsTer16 | |
| NM_133437.4:c.81248del (TTN) | NP_597681.4:p.Leu27083ArgfsTer16 | |
| NR_038271.1:n.446+3485del (TTN-AS1) | ||
| NR_038272.1:n.219+3485del (TTN-AS1) | ||
| XM_011511729.1:c.106964del (TTN) | XP_011510031.1:p.Leu35655ArgfsTer16 | |
| XM_011511730.1:c.80858del (TTN) | XP_011510032.1:p.Leu26953ArgfsTer16 | |
| XM_011511731.1:c.80717del (TTN) | XP_011510033.1:p.Leu26906ArgfsTer16 | |
| XM_017004819.1:c.106760del (TTN) | XP_016860308.1:p.Leu35587ArgfsTer16 | |
| XM_017004820.1:c.102158del (TTN) | XP_016860309.1:p.Leu34053ArgfsTer16 | |
| XM_017004821.1:c.102155del (TTN) | XP_016860310.1:p.Leu34052ArgfsTer16 | |
| XM_017004822.1:c.99197del (TTN) | XP_016860311.1:p.Leu33066ArgfsTer16 | |
| XM_017004823.1:c.80813del (TTN) | XP_016860312.1:p.Leu26938ArgfsTer16 | |
| XM_024453094.1:c.102308del (TTN) | XP_024308862.1:p.Leu34103ArgfsTer16 | |
| XM_024453095.1:c.102305del (TTN) | XP_024308863.1:p.Leu34102ArgfsTer16 | |
| XM_024453096.1:c.101738del (TTN) | XP_024308864.1:p.Leu33913ArgfsTer16 | |
| XM_024453097.1:c.99080del (TTN) | XP_024308865.1:p.Leu33027ArgfsTer16 | |
| XM_024453098.1:c.98999del (TTN) | XP_024308866.1:p.Leu33000ArgfsTer16 | |
| XM_024453099.1:c.80762del (TTN) | XP_024308867.1:p.Leu26921ArgfsTer16 | |
| XM_024453100.1:c.70616del (TTN) | XP_024308868.1:p.Leu23539ArgfsTer16 |